Prenatal diagnosis of a novelCOL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy
Author:
Publisher
Wiley
Subject
Genetics (clinical),Obstetrics and Gynecology
Reference29 articles.
1. Characterization of a type I collagen α 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method
2. Prenatal diagnosis of osteogenesis imperfecta
3. Variable prenatal appearance of osteogenesis imperfecta.
4. Osteogenesis Imperfecta
5. Osteogenesis imperfecta: translation of mutation to phenotype.
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1. Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia);Genes;2022-01-10
2. Three-dimensional ultrasound in the prenatal diagnosis of osteogenesis imperfecta;Taiwanese Journal of Obstetrics and Gynecology;2012-09
3. Osteogenesis imperfecta type I: Second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the paucisymptomatic father;Taiwanese Journal of Obstetrics and Gynecology;2012-06
4. Osteogenesis imperfecta type IV: Prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome;Taiwanese Journal of Obstetrics and Gynecology;2012-06
5. Osteogenesis imperfecta in the archeological record: An example from the Dakhleh Oasis, Egypt;International Journal of Paleopathology;2011-12
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